rs111033212
A SNP in the SLC26A4 gene on chromosome 7. Its most notable genotype is C;C: Pendred Syndrome (deafness)
- Gene
- SLC26A4
- Location
- Chr 7107,689,054 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- AncestryDNA
- Minor allele frequency
- <1%
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CMost notableBadPendred Syndrome (deafness)
- C;TBadCarrier of a Pendred syndrome (deafness) mutation
- T;TGoodcommon in clinvar
On SNPedia: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other SLC26A4 SNPs
- i5000002G;GPendred SyndromeVery important
- i5000003G;GPendred SyndromeVery important
- i5000693T;TPendred SyndromeVery important
- i5000696G;GPendred SyndromeVery important
- rs28939086C;CPendred SyndromeVery important
- rs80338848C;CPendred SyndromeVery important
- rs111033199T;TPendred SyndromeVery important
- rs111033220T;TPendred syndrome (hearing loss)Very important
Notes
From SNPedia
Notes
rs111033212, also known as c.1003T>C, p.Phe335Leu or F335L, represents a rare mutation in the SLC26A4 gene on chromosome 7. Inherited as an autosomal recessive, the minor allele is considered in ClinVar (and BabySeq) to be pathogenic for Pendred Syndrome or a form of deafness, autosomal recessive 4, with enlarged vestibular aqueduct.
C;C
See rs111033212
C;T
Unaffected in absence of another pathogenic mutation in the SLC26A4 gene; see rs111033212
Source and license
Adapted from rs111033212 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.